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  • CN376785 has been replaced by C5882753, showing C5882753

Epidermolytic hyperkeratosis 2B, autosomal recessive(EHK2B)

MedGen UID:
1845041
Concept ID:
C5882753
Disease or Syndrome
Synonym: EHK2B
 
Gene (location): KRT10 (17q21.2)
 
Monarch Initiative: MONDO:0700245
OMIM®: 620707

Definition

Autosomal recessive epidermolytic hyperkeratosis-2B (EHK2B) is a rare and clinically variable defect of cornification characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases (summary by Terheyden et al., 2009). For a discussion of genetic heterogeneity of epidermolytic hyperkeratosis, see EHK1 (113800). [from OMIM]

Clinical features

From HPO
Palmoplantar keratoderma
MedGen UID:
1635750
Concept ID:
C4551675
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Erythroderma
MedGen UID:
3767
Concept ID:
C0011606
Disease or Syndrome
An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
Hypernatremic dehydration
MedGen UID:
340564
Concept ID:
C1850544
Finding
Dehydration resulting from abnormally high levels of sodium in the blood. Infants and individuals that are intubated are at highest risk.
Congenital nonbullous ichthyosiform erythroderma
MedGen UID:
38180
Concept ID:
C0079154
Disease or Syndrome
The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.
Epidermal acanthosis
MedGen UID:
65136
Concept ID:
C0221270
Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
Orthokeratosis
MedGen UID:
375169
Concept ID:
C1843359
Finding
Formation of an anuclear keratin layer
Generalized hyperkeratosis
MedGen UID:
370776
Concept ID:
C1969913
Finding
Abnormal blistering of the skin
MedGen UID:
412159
Concept ID:
C2132198
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Hypergranulosis
MedGen UID:
481177
Concept ID:
C3279547
Finding
Hypergranulosis is an increased thickness of the stratum granulosum.
Keratinocyte vacuolization
MedGen UID:
905510
Concept ID:
C4230513
Finding
Increased number of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in keratinocytes.
Cobblestone-like hyperkeratosis
MedGen UID:
1626235
Concept ID:
C4531224
Disease or Syndrome
The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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